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Huntington Disease: Clinical Features and Diagnosis
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Clinical Significance of Fetal Choroid Plexus Cysts
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Causal Heterogeneity in Isolated Lissencephaly
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Angelman Syndrome: Clinical Profile
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Cockayne Syndrome: Review of 140 Cases
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Corneal Opacification in Infancy
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A 6-Year-Old Girl with Progressive Toe Walking
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A 15-year-old Boy with Bilateral Wrist Pain in the Setting of Weight Loss
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Neurofibromatosis Type 2
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Tuberous Sclerosis Complex: A Tale of Two Genes
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Neurologic Manifestations of von Hippel-Lindau Disease
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Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Variable Presentation of Brugada Syndrome: Lessons from Three Generations with Syncope
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The Hereditary Spastic Paraplegias
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
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A Locus for Febrile Seizures (FEB3) Maps to Chromosome 2q23-24
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Chromosome 20 Ring:A Chromosomal Disorder Associated with a Particular Electroclinical Pattern
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Hereditary Frontotemporal Dementia is Linked to Chromosome 17q21-q22:Genetic & Clinicopath Study of 3 Dutch Families
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Diagnosis of Merosin (Laminin-2) Deficient Congenital Muscular Dystrophy by Skin Biopsy
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The Epilepsy of Trisomy 9p
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X-Linked Malformation of Neuronal Migration
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The Inherited Ataxias and the New Genetics
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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A Gene for Hereditary Paroxysmal Cerebellar Ataxia Maps to Chromosome 19p
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Phenotype of Chromosome 14-Linked Familial Alzheimer's Disease in a Large Kindred
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Chromosome 14-Encoded Alzheimer's Disease:Genetic and Clinicopathological Description
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Seizure Characteristics in Chromosome 20 Benign Familial Neonatal Convulsions
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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Wilson Disease
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Localization of Idiopathic Generalized Epilepsy on Chromosome 6p in Families of Juvenile Myoclonic epilepsy patients
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Physical Features of Prader-Willi Syndrome in Neonates
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Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
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Neurological Findings in Patients with the Fragile-X Syndrome
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Hypomelanosis of Ito:Association with a Chromosomal Abnormality
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Colpocephaly:Clinical, Radiologic, & Pathogenetic Aspects
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The Lissencephaly, (Agyria) Syndrome in Siblings
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